Variant report

Variant	rs74122419
Chromosome Location	chr1:169861438-169861439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr1:169861436-169862092	HepG2	liver:	n/a	chr1:169861777-169861795
2	HCFC1	chr1:169861435-169864287	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:169861160-169864335	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:169861371-169863975	GM12878	blood:	n/a	n/a
5	MAFK	chr1:169861412-169862059	HepG2	liver:	n/a	chr1:169861780-169861791 chr1:169861778-169861792 chr1:169861780-169861791 chr1:169861779-169861790 chr1:169861573-169861593 chr1:169861779-169861794 chr1:169861779-169861790
6	POLR2A	chr1:169861357-169861611	GM12891	blood:	n/a	n/a
7	WRNIP1	chr1:169861432-169861632	GM12878	blood:	n/a	n/a
8	MAFK	chr1:169861432-169862272	Hela-S3	cervix:	n/a	chr1:169861780-169861791 chr1:169861778-169861792 chr1:169861780-169861791 chr1:169861779-169861790 chr1:169861573-169861593 chr1:169861779-169861794 chr1:169861779-169861790
9	POLR2A	chr1:169861236-169864286	GM12891	blood:	n/a	n/a
10	MAFK	chr1:169861391-169862597	GM12878	blood:	n/a	chr1:169861780-169861791 chr1:169861778-169861792 chr1:169861780-169861791 chr1:169861779-169861790 chr1:169861573-169861593 chr1:169861779-169861794 chr1:169861779-169861790

No.	Distal block	Cell Line	Cell type
1	chr1:169861326..169864449-chr1:170043806..170046469,4	K562	blood:
2	chr1:169704931..169706505-chr1:169859799..169862220,2	K562	blood:
3	chr1:169763198..169765886-chr1:169860155..169862900,4	K562	blood:
4	chr1:169847953..169852057-chr1:169858381..169863040,5	MCF-7	breast:
5	chr1:169708422..169710485-chr1:169860930..169862840,2	MCF-7	breast:
6	chr1:169845717..169848182-chr1:169860925..169862962,2	MCF-7	breast:
7	chr1:169764521..169766056-chr1:169860447..169863119,2	MCF-7	breast:
8	chr1:169770689..169773107-chr1:169861267..169863060,2	K562	blood:
9	chr1:169770089..169773107-chr1:169860421..169863060,3	K562	blood:
10	chr1:169763198..169765715-chr1:169860443..169862900,3	K562	blood:

Variant related genes	Relation type
SCYL3	TF binding region
ENSG00000000460	Chromatin interaction
ENSG00000171806	Chromatin interaction
ENSG00000075945	Chromatin interaction

Extended variants
information (count: 322 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:314)

rs_ID	r²[population]
rs1046058	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10489173	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10489174	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10489176	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10494479	0.81[EUR][1000 genomes]
rs10800489	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10919253	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12116524	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12116601	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116650	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12117794	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118305	0.86[EUR][1000 genomes]
rs12118431	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12118559	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12118739	0.86[EUR][1000 genomes]
rs12119299	0.81[EUR][1000 genomes]
rs12119368	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12119386	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12119447	0.86[EUR][1000 genomes]
rs12119473	0.90[EUR][1000 genomes]
rs12119635	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12119665	0.86[EUR][1000 genomes]
rs12120114	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12120229	0.85[EUR][1000 genomes]
rs12120647	0.81[EUR][1000 genomes]
rs12120727	0.96[EUR][1000 genomes]
rs12121045	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121113	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12121313	0.81[EUR][1000 genomes]
rs12121371	0.81[EUR][1000 genomes]
rs12121381	0.81[EUR][1000 genomes]
rs12121443	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12121451	0.86[EUR][1000 genomes]
rs12121606	0.81[EUR][1000 genomes]
rs12121614	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121797	0.86[EUR][1000 genomes]
rs12122419	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12122582	0.81[EUR][1000 genomes]
rs12122606	0.81[EUR][1000 genomes]
rs12122720	0.86[EUR][1000 genomes]
rs12122767	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12122885	0.86[EUR][1000 genomes]
rs12123432	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12123483	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12123686	0.86[EUR][1000 genomes]
rs12123806	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12123835	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12123865	0.86[EUR][1000 genomes]
rs12123942	0.81[EUR][1000 genomes]
rs12124032	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124384	0.84[EUR][1000 genomes]
rs12124561	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12124750	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12124775	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12124907	0.86[EUR][1000 genomes]
rs12125023	0.87[EUR][1000 genomes]
rs12125595	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12125679	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12126591	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12127120	0.86[EUR][1000 genomes]
rs12127174	0.84[EUR][1000 genomes]
rs12127211	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12127500	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127911	0.86[EUR][1000 genomes]
rs12128126	0.86[EUR][1000 genomes]
rs12128308	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12128695	0.81[EUR][1000 genomes]
rs12128704	0.81[EUR][1000 genomes]
rs12128929	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12129052	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12129443	0.81[EUR][1000 genomes]
rs12129951	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12130150	0.81[EUR][1000 genomes]
rs12130263	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12130372	0.80[EUR][1000 genomes]
rs12130417	0.81[EUR][1000 genomes]
rs12130561	0.81[EUR][1000 genomes]
rs12130784	0.81[EUR][1000 genomes]
rs12131192	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12131357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131444	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12131603	0.81[EUR][1000 genomes]
rs12132173	0.86[EUR][1000 genomes]
rs12132222	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12132384	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12132633	0.89[EUR][1000 genomes]
rs12132892	0.81[EUR][1000 genomes]
rs12133074	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12133108	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12133115	0.86[EUR][1000 genomes]
rs12133172	0.81[EUR][1000 genomes]
rs12133369	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12133849	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12134837	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12134886	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12135057	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12135355	0.84[EUR][1000 genomes]
rs12135361	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12135436	0.84[EUR][1000 genomes]
rs12135559	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12135642	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12135726	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12136425	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12136554	0.81[EUR][1000 genomes]
rs12137279	0.81[EUR][1000 genomes]
rs12137423	0.81[EUR][1000 genomes]
rs12137487	0.81[EUR][1000 genomes]
rs12137873	0.81[EUR][1000 genomes]
rs12138083	0.81[EUR][1000 genomes]
rs12138861	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12139141	0.81[EUR][1000 genomes]
rs12139629	0.81[EUR][1000 genomes]
rs12140134	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12140656	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12140984	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12141317	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12141377	0.81[EUR][1000 genomes]
rs12141428	0.81[EUR][1000 genomes]
rs12141572	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12141613	0.81[EUR][1000 genomes]
rs12141680	0.81[EUR][1000 genomes]
rs12142093	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12142355	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12142459	0.81[EUR][1000 genomes]
rs12142511	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12142959	0.81[EUR][1000 genomes]
rs12142961	0.81[EUR][1000 genomes]
rs12143057	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12143161	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12143204	0.81[EUR][1000 genomes]
rs12143260	0.86[EUR][1000 genomes]
rs12143301	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12143739	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143781	0.86[EUR][1000 genomes]
rs12144122	1.00[EUR][1000 genomes]
rs12144204	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12144207	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12144599	0.85[EUR][1000 genomes]
rs12144624	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144683	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145295	0.86[EUR][1000 genomes]
rs12145417	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12145458	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12145504	0.81[EUR][1000 genomes]
rs12145562	0.81[EUR][1000 genomes]
rs12145574	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12145614	0.81[EUR][1000 genomes]
rs12145705	0.86[EUR][1000 genomes]
rs12146043	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321657	0.86[EUR][1000 genomes]
rs1496	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16828222	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16862751	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16862919	0.83[EUR][1000 genomes]
rs16862956	0.83[EUR][1000 genomes]
rs16862968	0.83[EUR][1000 genomes]
rs17345663	0.81[EUR][1000 genomes]
rs17349733	0.86[EUR][1000 genomes]
rs17349740	0.86[EUR][1000 genomes]
rs17527744	0.81[EUR][1000 genomes]
rs17529304	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17529791	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17543370	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17543611	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17543730	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17544586	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17544823	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593862	0.87[EUR][1000 genomes]
rs17601414	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17601582	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17601631	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17602051	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17602072	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17602701	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17603570	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17603666	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057249	0.86[EUR][1000 genomes]
rs2093050	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2145046	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2183418	0.81[EUR][1000 genomes]
rs2272919	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2272920	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2272921	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2421109	0.81[EUR][1000 genomes]
rs2421110	0.81[EUR][1000 genomes]
rs2474697	0.81[EUR][1000 genomes]
rs2474698	0.86[EUR][1000 genomes]
rs2474704	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2474705	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2750018	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2750019	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806384	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806385	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806387	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806389	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806390	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806392	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28652825	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3766135	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3766141	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3766143	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3766152	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272481	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41304562	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4385776	0.86[EUR][1000 genomes]
rs4519	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs476485	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs478116	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs483103	0.86[EUR][1000 genomes]
rs486431	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs490469	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs490776	0.86[EUR][1000 genomes]
rs495092	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs495642	0.86[EUR][1000 genomes]
rs505336	0.86[EUR][1000 genomes]
rs506196	0.86[EUR][1000 genomes]
rs510681	0.86[EUR][1000 genomes]
rs511443	0.88[EUR][1000 genomes]
rs511609	0.86[EUR][1000 genomes]
rs517649	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs518928	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs520990	0.86[EUR][1000 genomes]
rs521165	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs522017	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs536080	0.89[EUR][1000 genomes]
rs536358	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs536834	0.85[EUR][1000 genomes]
rs537976	0.89[EUR][1000 genomes]
rs541711	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs544008	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs545954	0.88[EUR][1000 genomes]
rs545963	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs549537	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs553209	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs554060	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs557475	0.86[EUR][1000 genomes]
rs558540	0.86[EUR][1000 genomes]
rs558782	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs559969	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs560414	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs562054	0.86[EUR][1000 genomes]
rs562837	0.92[EUR][1000 genomes]
rs565397	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs565626	0.87[EUR][1000 genomes]
rs571806	0.89[EUR][1000 genomes]
rs575147	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs576225	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs578916	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57952001	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs579553	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs582900	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs583604	0.85[EUR][1000 genomes]
rs590181	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs591202	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs591559	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs593406	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs595984	0.89[EUR][1000 genomes]
rs598763	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs601355	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs602556	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs606047	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs606409	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs606689	0.83[EUR][1000 genomes]
rs606695	0.83[EUR][1000 genomes]
rs607707	0.86[EUR][1000 genomes]
rs612548	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61326145	0.94[AFR][1000 genomes]
rs615485	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs615915	0.86[EUR][1000 genomes]
rs616789	0.86[EUR][1000 genomes]
rs618149	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs629408	0.86[EUR][1000 genomes]
rs629421	0.81[EUR][1000 genomes]
rs629593	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs630179	0.86[EUR][1000 genomes]
rs638486	0.86[EUR][1000 genomes]
rs642352	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs644834	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs646730	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs647113	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs648502	0.92[EUR][1000 genomes]
rs654664	0.89[EUR][1000 genomes]
rs655133	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs655474	0.89[EUR][1000 genomes]
rs656334	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs656848	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs657254	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs659363	0.88[EUR][1000 genomes]
rs661516	0.84[EUR][1000 genomes]
rs664598	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs664962	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs665774	0.83[EUR][1000 genomes]
rs6681685	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs671921	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs672843	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs673280	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs673656	0.89[EUR][1000 genomes]
rs673789	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs674896	0.92[EUR][1000 genomes]
rs675394	0.92[EUR][1000 genomes]
rs676020	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs677630	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs680269	0.86[EUR][1000 genomes]
rs685155	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs686519	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs686911	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs687195	0.86[EUR][1000 genomes]
rs7411424	0.81[EUR][1000 genomes]
rs74122418	0.97[AFR][1000 genomes]
rs7549000	0.81[EUR][1000 genomes]
rs850771	0.86[EUR][1000 genomes]
rs9426888	0.86[EUR][1000 genomes]
rs9645328	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9645329	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs74122419	METTL18	cis	Nerve Tibial	GTEx
rs74122419	METTL18	cis	Heart Left Ventricle	GTEx
rs74122419	METTL18	cis	lung	GTEx
rs74122419	METTL18	cis	Thyroid	GTEx
rs74122419	METTL18	cis	Muscle Skeletal	GTEx
rs74122419	METTL18	cis	Esophagus Muscularis	GTEx
rs74122419	METTL18	cis	Artery Tibial	GTEx
rs74122419	METTL18	cis	Esophagus Mucosa	GTEx
rs74122419	METTL18	cis	Adipose Subcutaneous	GTEx
rs74122419	METTL18	cis	Artery Aorta	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169786200-169862400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:169852600-169862200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:169858800-169861600	Enhancers	Small Intestine	intestine
4	chr1:169859000-169861800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:169859000-169861800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:169859400-169862000	Weak transcription	Ovary	ovary
7	chr1:169859600-169861600	Enhancers	Fetal Intestine Small	intestine
8	chr1:169859800-169861600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:169859800-169861600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:169859800-169861600	Enhancers	Brain Anterior Caudate	brain
11	chr1:169860000-169861600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:169860000-169861600	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:169860000-169861600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:169860000-169861600	Enhancers	Brain Substantia Nigra	brain
15	chr1:169860000-169861600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:169860000-169861600	Enhancers	Fetal Intestine Large	intestine
17	chr1:169860000-169861600	Enhancers	Fetal Thymus	thymus
18	chr1:169860000-169861600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:169860000-169861800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:169860000-169861800	Enhancers	Placenta	Placenta
21	chr1:169860000-169861800	Enhancers	Stomach Mucosa	stomach
22	chr1:169860000-169862000	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:169860000-169862000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr1:169860000-169862000	Flanking Active TSS	A549	lung
25	chr1:169860000-169862200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:169860000-169862200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr1:169860000-169862200	Enhancers	Spleen	Spleen
28	chr1:169860000-169862400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:169860200-169861600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:169860200-169861600	Enhancers	HMEC	breast
31	chr1:169860200-169861800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:169860400-169861600	Enhancers	Fetal Kidney	kidney
33	chr1:169860400-169861600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:169860400-169861600	Enhancers	NHDF-Ad	bronchial
35	chr1:169860400-169861800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:169860400-169862000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:169860400-169862200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:169860600-169861600	Enhancers	Brain Hippocampus Middle	brain
39	chr1:169860600-169861600	Flanking Active TSS	GM12878-XiMat	blood
40	chr1:169860600-169861800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:169860600-169861800	Enhancers	Primary B cells from cord blood	blood
42	chr1:169860600-169861800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr1:169860600-169861800	Enhancers	Fetal Heart	heart
44	chr1:169860600-169862000	Weak transcription	Pancreas	Pancrea
45	chr1:169860800-169861600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:169860800-169861600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:169860800-169861600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:169860800-169861600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr1:169860800-169861600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr1:169860800-169861600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

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